Senior-Boichis syndrome

Definicija

Boichis syndrome consists of the association of congenital nephronophthisis leading to renal failure, and hepatic fibrosis. It has been described in five members of one family, two of whom died from renal failure. The association of Boichis syndrome with tapetoretinal degeneration and intellectual deficit has also been reported in one family: the so-called Senior-Boichis syndrome could be in fact the same entity, and was later reported in a 12 year-old child.

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Pun naziv

Senior-Boichis syndrome

Kratki naziv

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Sinonimi

Nephronophthisis-hepatic fibrosis syndromeBoichis disease

Orpha broj

Kategorija

Podkategorija

Naziv na stranom jeziku

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Prevalenca

Unknown

Nasleđivanje

Autosomal recessive

Period početka bolesti

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ICD 10

OMIM

UMLS

GARD

MEDDRA

Tekstualni opis
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Etiologija
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Prognoza
bolest_prognoza
Diferencijalna dijagnoza
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Tretman
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Dijagnostičke metode
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Antenatalna dijagnoza
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Epidemiologija
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Genetsko savetovanje
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Terapija
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Klinička istraživanja
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